Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

Author:

Colombo Mara1,Blok Marinus J.2,Whiley Phillip34,Santamariña Marta5,Gutiérrez-Enríquez Sara6,Romero Atocha7,Garre Pilar7,Becker Alexandra89,Smith Lindsay Denise10,De Vecchi Giovanna1,Brandão Rita D.2,Tserpelis Demis2,Brown Melissa4,Blanco Ana11,Bonache Sandra612,Menéndez Mireia13,Houdayer Claude14,Foglia Claudia1,Fackenthal James D.15,Baralle Diana10,Wappenschmidt Barbara89,Díaz-Rubio Eduardo716,Caldés Trinidad7,Walker Logan17,Díez Orland61218,Vega Ana11,Spurdle Amanda B.3,Radice Paolo1,De La Hoya Miguel7,

Affiliation:

1. Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy,

2. Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands,

3. Molecular Cancer Epidemiology Laboratory, Genetics and Computational Division, QIMR Berghofer Medical Research Institute, Brisbane, Australia,

4. School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, Australia,

5. Grupo de Medicina Xenómica-USC, Universidad de Santiago de Compostela, CIBERER, IDIS, Santiago de Compostela, Spain,

6. Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO) and

7. Laboratorio de Oncología Molecular, Instituto de Investigación Sanitaria San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, Spain,

8. Center of Familial Breast and Ovarian Cancer, University Hospital Cologne, Cologne, Germany,

9. Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany,

10. Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, UK,

11. Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain,

12. Oncogenetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain,

13. Genetic Diagnosis Unit, Hereditary Cancer Program, Institut Català d'Oncologia, Barcelona, Spain,

14. Service de Génétique and INSERM U830, Institut Curie and Université Paris Descartes, Sorbonne Paris Cité, Paris, France,

15. Department of Medicine, The University of Chicago Medical Center, Chicago, IL, USA,

16. Servicio de Oncología Médica, Hospital Clínico San Carlos, Madrid, Spain,

17. Department of Pathology, University of Otago, Christchurch, New Zealand

18. Oncogenetics Group, University Hospital of Vall d'Hebron, Barcelona, Spain

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Cited by 70 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3